3.1.2.2 ABCG5/8 (deficiency of either causes sitosterolemia)

Case Study II: Hereditary Sitosterolemia

This 58-year-old patient was referred to the lipid clinic for statin intolerance and a history of "genetic hypercholesterolemia." The patient has had tendon xanthomas on the extensor surface of his hands and on his Achilles tendons since childhood just like his brother and sister. Both... more